SE-ATLAS

22q11.2 deletion syndrome Absent thumb-short stature-immunodeficiency syndrome Acquired immunodeficiency Acquired neutropenia Adult idiopathic neutropenia Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Agammaglobulinemia Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Anomalie chromosomique rare Asplénie congénitale familiale isolée Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy type 1 Autoinflammatory syndrome with immune deficiency Autosomal agammaglobulinemia Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant severe congenital neutropenia Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Bacterial susceptibility due to TLR signaling pathway deficiency Barth syndrome Blau syndrome Bloom syndrome Burkitt lymphoma CINCA syndrome Cartilage-hair hypoplasia Cernunnos-XLF deficiency Chronic granulomatous disease Chronic mucocutaneous candidiasis Chédiak-Higashi syndrome Classic Hodgkin lymphoma Cohen syndrome Combined T and B cell immunodeficiency Combined immunodeficiency due to CARD11 deficiency Combined immunodeficiency due to CD27 deficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Common variable immunodeficiency Complement component 3 deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Constitutional neutropenia Constitutional neutropenia with extra-hematopoietic manifestations Cyclic neutropenia DNA repair defect other than combined T-cell and B-cell immunodeficiencies Deficiency in anterior pituitary function-variable immunodeficiency syndrome Dyskératose congénitale Déficit d'adhésion leucocytaire type I Déficit d'adhésion leucocytaire type II Déficit d'adhésion leucocytaire type III Déficit immunitaire combiné avec granulomatose Déficit immunitaire combiné sévère T-B+ par déficit en chaîne gamma Déficit immunitaire combiné sévère par déficit en adénosine désaminase Déficit immunitaire combiné sévère type alymphocytosique Epidermodysplasia verruciformis Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Extranodal nasal NK/T cell lymphoma FADD-related immunodeficiency Familial Mediterranean fever Familial cold urticaria Familial hemophagocytic lymphohistiocytosis Functional neutrophil defect Genetic susceptibility to infections due to particular pathogens Glycogénose par déficit en glucose-6-phosphatase de type Ib Good syndrome Griscelli syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Hermansky-Pudlak syndrome due to AP-3 deficiency Herpes simplex virus encephalitis Hodgkin lymphoma Hoyeraal-Hreidarsson syndrome Hyper-IgE syndrome Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperimmunoglobulinemia D with periodic fever Hyperzincémie et hypercalprotectinémie Hypoglammaglobulinémie transitoire de l'enfance Hypohidrotic ectodermal dysplasia with immunodeficiency ICF syndrome Idiopathic CD4 lymphocytopenia Immune dysregulation disease with immunodeficiency Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immuno-osseous dysplasia Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II Immunodeficiency due to CD25 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to a complement cascade protein anomaly Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to absence of thymus Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency predominantly affecting antibody production Immunodeficiency syndrome with autoimmunity Immunodeficiency syndrome with hypopigmentation Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodéficence due à un déficit des composés classiques de la voie classique du complément Immunoglobulin heavy chain deficiency Infection récurrente par déficit en granules spécifiques Isolated agammaglobulinemia Kostmann syndrome LIG4 syndrome Laron syndrome with immunodeficiency Leukocyte adhesion deficiency Lichtenstein syndrome Lymphomatoid granulomatosis Lymphome de Hodgkin nodulaire à prédominance lymphocytaire Lymphome diffus à grandes cellules B avec inflammation chronique Lymphome à type d'hydroa vacciniforme Lymphoproliferative syndrome Majeed syndrome Maladie lymphoproliférative auto-immune de Dianzani Maladie lymphoproliférative systémique à cellules T positive au virus Epstein-Barr chez l'enfant Mendelian susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Monocytopenia with susceptibility to infections Muckle-Wells syndrome Myeloperoxidase deficiency NLRP3-associated autoinflammatory disease Neutropenia-monocytopenia-deafness syndrome Neutrophil immunodeficiency syndrome Neutropénie congénitale sévère autosomique récessive par déficit en G6PC3 Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Omenn syndrome Osteopetrosis-hypogammaglobulinemia syndrome Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndromes due to defects in innate immunity PAPA syndrome PFAPA syndrome PLCG2-associated antibody deficiency and immune dysregulation Pancytopenia due to IKZF1 mutations Papillon-Lefèvre syndrome Plasmablastic lymphoma Poikiloderma with neutropenia Post-transplant lymphoproliferative disease Primary central nervous system lymphoma Primary effusion lymphoma Primary hemophagocytic lymphohistiocytosis Primary immunodeficiency Primary immunodeficiency due to a defect in adaptive immunity Primary immunodeficiency due to a defect in innate immunity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Properdin deficiency Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel en IFNgammaR1 Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel en IFNgammaR2 Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR1 Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR2 Purine nucleoside phosphorylase deficiency RAS-associated autoimmune leukoproliferative disease Recurrent Neisseria infections due to factor D deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Reticular dysgenesis Roifman syndrome Say-Barber-Miller syndrome Schimke immuno-osseous dysplasia Selective IgM deficiency Severe combined immunodeficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to FOXN1 deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe congenital neutropenia Severe dermatitis-multiple allergies-metabolic wasting syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short-limb skeletal dysplasia with severe combined immunodeficiency Shwachman-Diamond syndrome Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells Spondyloenchondrodysplasia Sterile multifocal osteomyelitis with periostitis and pustulosis Susceptibility to infection due to TYK2 deficiency Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibilité aux infections virales et mycobactériennes par déficit en STAT1 Syndrome d'agammaglobulinémie-microcéphalie-craniosténose-dermatite sévère Syndrome de Felty Syndrome de PI3K-delta activé Syndrome de Pearson Syndrome de dysmorphie faciale-déficit immunitaire-livedo-petite taille Syndrome de déficit immunitaire primaire par déficit en LAMTOR2 Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX Syndrome de maladie veino-occlusive hépatique-déficit immunitaire Syndrome lymphoprolifératif auto-immun avec infections virales récurrentes Syndrome with combined immunodeficiency Syndromic agammaglobulinemia Syndromic multisystem autoimmune disease due to Itch deficiency T+ B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B- severe combined immunodeficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with thymic aplasia T-cell large granular lymphocyte leukemia TCR-alpha-beta-positive T-cell deficiency Tumor necrosis factor receptor 1 associated periodic syndrome Vici syndrome WHIM syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper-IgM syndrome X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked lymphoproliferative disease X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked severe congenital neutropenia